Linked Data
dbSNP Id:
rs1253479472
gnomAD v2:
9-88699944-A-AGAGT
gnomAD v3:
9-86085029-A-AGAGT
gnomAD v4:
9-86085029-A-AGAGT
MyVariant Identifiers:
chr9:g.88699944_88699945insGAGT (hg19)
chr9:g.86085029_86085030insGAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86085033_86085036dup , CM000671.2:g.86085033_86085036dup | GRCh38 |
| NC_000009.11:g.88699948_88699951dup , CM000671.1:g.88699948_88699951dup | GRCh37 |
| NC_000009.10:g.87889768_87889771dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388711.7:c.-21-5692_-21-5689dup | ENSP00000373363.3:n.-21-5692_-21-5689dup | |
| ENST00000388712.7:c.-21-5692_-21-5689dup MANE Select | ENSP00000373364.3:n.-21-5692_-21-5689dup | |
| ENST00000466178.1:c.-135_-132dup | ENSP00000418155.1:n.-135_-132dup | |
| ENST00000472919.1:n.150-5692_150-5689dup | ||
| NM_016548.3:c.-21-5692_-21-5689dup | NP_057632.2:n.-21-5692_-21-5689dup | |
| NM_177937.2:c.-21-5692_-21-5689dup | NP_808800.1:n.-21-5692_-21-5689dup | |
| NM_016548.4:c.-21-5692_-21-5689dup MANE Select | NP_057632.2:n.-21-5692_-21-5689dup | |
| NM_177937.3:c.-21-5692_-21-5689dup | NP_808800.1:n.-21-5692_-21-5689dup |